Linked Data
dbSNP Id:
rs1227228855
gnomAD v2:
19-4090746-T-C
gnomAD v3:
19-4090748-T-C
gnomAD v4:
19-4090748-T-C
Genomic Alleles
| HGVS | Genome Assembly |
|---|---|
| NC_000019.10:g.4090748T>C , CM000681.2:g.4090748T>C | GRCh38 |
| NC_000019.9:g.4090746T>C , CM000681.1:g.4090746T>C | GRCh37 |
| NC_000019.8:g.4041746T>C | NCBI36 |
| NG_007996.1:g.38381A>G , LRG_750:g.38381A>G |
Transcript Alleles
| HGVS | Amino-acid Change | |
|---|---|---|
| ENST00000394867.9:n.1532-40A>G | ||
| ENST00000688002.1:n.3244-40A>G | ||
| ENST00000688751.1:n.229-40A>G | ||
| ENST00000689792.1:n.997-40A>G | ||
| ENST00000262948.10:c.1093-40A>G MANE Select | ENSP00000262948.4:n.1093-40A>G | |
| ENST00000262948.9:c.1093-40A>G | ENSP00000262948.3:n.1093-40A>G | |
| ENST00000394867.8:c.802-40A>G | ENSP00000378336.1:n.802-40A>G | |
| ENST00000597263.5:n.278-40A>G | ||
| ENST00000599021.1:c.203-40A>G | ||
| ENST00000600584.5:n.2542-40A>G | ||
| ENST00000601786.5:n.1394-40A>G | ||
| NM_030662.3:c.1093-40A>G , LRG_750t1:c.1093-40A>G | NP_109587.1:n.1093-40A>G | |
| XM_006722799.2:c.814-40A>G | XP_006722862.1:n.814-40A>G | |
| XM_011528133.1:c.523-40A>G | XP_011526435.1:n.523-40A>G | |
| NM_030662.4:c.1093-40A>G MANE Select | NP_109587.1:n.1093-40A>G |